dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs717620
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr10:99782821 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.191163 (61534/321892, ALFA)T=0.147354 (39003/264690, TOPMED)T=0.170547 (42814/251040, GnomAD_exome) (+ 28 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- ABCC2 : Non Coding Transcript Variant
- Publications
- 111 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 327022 | C=0.809374 | T=0.190626 | 0.656463 | 0.037716 | 0.30582 | 8 |
| European | Sub | 284804 | C=0.800371 | T=0.199629 | 0.640855 | 0.040112 | 0.319033 | 0 |
| African | Sub | 13446 | C=0.93849 | T=0.06151 | 0.881006 | 0.004016 | 0.114978 | 0 |
| African Others | Sub | 474 | C=0.964 | T=0.036 | 0.936709 | 0.008439 | 0.054852 | 6 |
| African American | Sub | 12972 | C=0.93756 | T=0.06244 | 0.87897 | 0.003854 | 0.117175 | 0 |
| Asian | Sub | 4022 | C=0.7752 | T=0.2248 | 0.606663 | 0.056191 | 0.337146 | 1 |
| East Asian | Sub | 3226 | C=0.7616 | T=0.2384 | 0.583385 | 0.060136 | 0.356479 | 0 |
| Other Asian | Sub | 796 | C=0.830 | T=0.170 | 0.701005 | 0.040201 | 0.258794 | 2 |
| Latin American 1 | Sub | 1220 | C=0.8500 | T=0.1500 | 0.72459 | 0.02459 | 0.25082 | 0 |
| Latin American 2 | Sub | 5320 | C=0.8513 | T=0.1487 | 0.724812 | 0.02218 | 0.253008 | 0 |
| South Asian | Sub | 5234 | C=0.8943 | T=0.1057 | 0.800535 | 0.011846 | 0.187619 | 0 |
| Other | Sub | 12976 | C=0.82845 | T=0.17155 | 0.689273 | 0.032367 | 0.27836 | 2 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 321892 | C=0.808837 | T=0.191163 |
| Allele Frequency Aggregator | European | Sub | 281634 | C=0.800326 | T=0.199674 |
| Allele Frequency Aggregator | African | Sub | 12304 | C=0.93774 | T=0.06226 |
| Allele Frequency Aggregator | Other | Sub | 12158 | C=0.82711 | T=0.17289 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 5320 | C=0.8513 | T=0.1487 |
| Allele Frequency Aggregator | South Asian | Sub | 5234 | C=0.8943 | T=0.1057 |
| Allele Frequency Aggregator | Asian | Sub | 4022 | C=0.7752 | T=0.2248 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1220 | C=0.8500 | T=0.1500 |
| TopMed | Global | Study-wide | 264690 | C=0.852646 | T=0.147354 |
| gnomAD - Exomes | Global | Study-wide | 251040 | C=0.829453 | T=0.170547 |
| gnomAD - Exomes | European | Sub | 135078 | C=0.800952 | T=0.199048 |
| gnomAD - Exomes | Asian | Sub | 48954 | C=0.84925 | T=0.15075 |
| gnomAD - Exomes | American | Sub | 34552 | C=0.86985 | T=0.13015 |
| gnomAD - Exomes | African | Sub | 16248 | C=0.94350 | T=0.05650 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10078 | C=0.80075 | T=0.19925 |
| gnomAD - Exomes | Other | Sub | 6130 | C=0.8166 | T=0.1834 |
| gnomAD - Genomes | Global | Study-wide | 140148 | C=0.846619 | T=0.153381 |
| gnomAD - Genomes | European | Sub | 75876 | C=0.80338 | T=0.19662 |
| gnomAD - Genomes | African | Sub | 42030 | C=0.93747 | T=0.06253 |
| gnomAD - Genomes | American | Sub | 13646 | C=0.83497 | T=0.16503 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | C=0.7889 | T=0.2111 |
| gnomAD - Genomes | East Asian | Sub | 3126 | C=0.7997 | T=0.2003 |
| gnomAD - Genomes | Other | Sub | 2150 | C=0.8279 | T=0.1721 |
| ExAC | Global | Study-wide | 120966 | C=0.831325 | T=0.168675 |
| ExAC | Europe | Sub | 73140 | C=0.80077 | T=0.19923 |
| ExAC | Asian | Sub | 25028 | C=0.85029 | T=0.14971 |
| ExAC | American | Sub | 11502 | C=0.88359 | T=0.11641 |
| ExAC | African | Sub | 10394 | C=0.94256 | T=0.05744 |
| ExAC | Other | Sub | 902 | C=0.835 | T=0.165 |
| The PAGE Study | Global | Study-wide | 78698 | C=0.87807 | T=0.12193 |
| The PAGE Study | AfricanAmerican | Sub | 32514 | C=0.93498 | T=0.06502 |
| The PAGE Study | Mexican | Sub | 10810 | C=0.86078 | T=0.13922 |
| The PAGE Study | Asian | Sub | 8316 | C=0.7910 | T=0.2090 |
| The PAGE Study | PuertoRican | Sub | 7918 | C=0.8476 | T=0.1524 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.7891 | T=0.2109 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.8220 | T=0.1780 |
| The PAGE Study | Dominican | Sub | 3828 | C=0.8788 | T=0.1212 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.8731 | T=0.1269 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.8855 | T=0.1145 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.8405 | T=0.1595 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.860 | T=0.140 |
| 14KJPN | JAPANESE | Study-wide | 28258 | C=0.80699 | T=0.19301 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.80597 | T=0.19403 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | C=0.84784 | T=0.15216 |
| GO Exome Sequencing Project | European American | Sub | 8600 | C=0.8014 | T=0.1986 |
| GO Exome Sequencing Project | African American | Sub | 4406 | C=0.9385 | T=0.0615 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.8637 | T=0.1363 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.9686 | T=0.0314 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.7891 | T=0.2109 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.8985 | T=0.1015 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.7744 | T=0.2256 |
| 1000Genomes_30x | American | Sub | 980 | C=0.833 | T=0.167 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.8650 | T=0.1350 |
| 1000Genomes | African | Sub | 1322 | C=0.9690 | T=0.0310 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.7827 | T=0.2173 |
| 1000Genomes | Europe | Sub | 1006 | C=0.7932 | T=0.2068 |
| 1000Genomes | South Asian | Sub | 978 | C=0.905 | T=0.095 |
| 1000Genomes | American | Sub | 694 | C=0.834 | T=0.166 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.7906 | T=0.2094 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.8025 | T=0.1975 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.7905 | T=0.2095 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.7532 | T=0.2468 |
| HapMap | Global | Study-wide | 1890 | C=0.8799 | T=0.1201 |
| HapMap | American | Sub | 768 | C=0.849 | T=0.151 |
| HapMap | African | Sub | 692 | C=0.964 | T=0.036 |
| HapMap | Asian | Sub | 254 | C=0.803 | T=0.197 |
| HapMap | Europe | Sub | 176 | C=0.795 | T=0.205 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1132 | C=0.8472 | T=0.1528 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 626 | C=0.824 | T=0.176 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | C=0.931 | T=0.069 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 120 | C=0.883 | T=0.117 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | C=0.787 | T=0.213 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | C=0.89 | T=0.11 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | C=0.86 | T=0.14 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.796 | T=0.204 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 788 | C=0.783 | T=0.217 |
| CNV burdens in cranial meningiomas | CRM | Sub | 788 | C=0.783 | T=0.217 |
| Chileans | Chilean | Study-wide | 626 | C=0.874 | T=0.126 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 611 | C=0.807 | T=0.193 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.725 | T=0.275 |
| PharmGKB Aggregated | Global | Study-wide | 538 | C=0.866 | T=0.134 |
| PharmGKB Aggregated | PA130532840 | Sub | 494 | C=0.864 | T=0.136 |
| PharmGKB Aggregated | PA141065363 | Sub | 44 | C=0.89 | T=0.11 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.762 | T=0.238 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | C=0.770 | T=0.230 |
| Qatari | Global | Study-wide | 216 | C=0.870 | T=0.130 |
| SGDP_PRJ | Global | Study-wide | 136 | C=0.463 | T=0.537 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 62 | C=0.87 | T=0.13 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.90 | T=0.10 |
| Siberian | Global | Study-wide | 12 | C=0.50 | T=0.50 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.99782821C>T |
| GRCh37.p13 chr 10 | NC_000010.10:g.101542578C>T |
| ABCC2 RefSeqGene (LRG_1208) | NG_011798.2:g.5224C>T |
Gene: ABCC2, ATP binding cassette subfamily C member 2
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ABCC2 transcript | NM_000392.5:c.-24= | N/A | 5 Prime UTR Variant |
| ABCC2 transcript variant X3 | XM_047424598.1:c.-24= | N/A | 5 Prime UTR Variant |
| ABCC2 transcript variant X4 | XM_011539291.4:c.-24= | N/A | 5 Prime UTR Variant |
| ABCC2 transcript variant X5 | XM_006717631.5:c.-24= | N/A | 5 Prime UTR Variant |
| ABCC2 transcript variant X6 | XM_017015675.3:c.-24= | N/A | 5 Prime UTR Variant |
| ABCC2 transcript variant X2 | XM_006717630.4:c. | N/A | Genic Upstream Transcript Variant |
| ABCC2 transcript variant X1 | XR_945604.4:n.182C>T | N/A | Non Coding Transcript Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: T (allele ID:
323615
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000404794.3 | Dubin-Johnson syndrome | Benign |
| RCV000727831.3 | not specified | Benign |
| RCV001683197.1 | not provided | Benign |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | C= | T |
|---|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.99782821= | NC_000010.11:g.99782821C>T |
| GRCh37.p13 chr 10 | NC_000010.10:g.101542578= | NC_000010.10:g.101542578C>T |
| ABCC2 RefSeqGene (LRG_1208) | NG_011798.2:g.5224= | NG_011798.2:g.5224C>T |
| ABCC2 transcript | NM_000392.5:c.-24= | NM_000392.5:c.-24C>T |
| ABCC2 transcript | NM_000392.4:c.-24= | NM_000392.4:c.-24C>T |
| ABCC2 transcript | NM_000392.3:c.-24= | NM_000392.3:c.-24C>T |
| ABCC2 transcript variant X5 | XM_006717631.5:c.-24= | XM_006717631.5:c.-24C>T |
| ABCC2 transcript variant X5 | XM_006717631.4:c.-24= | XM_006717631.4:c.-24C>T |
| ABCC2 transcript variant X5 | XM_006717631.3:c.-24= | XM_006717631.3:c.-24C>T |
| ABCC2 transcript variant X5 | XM_006717631.2:c.-24= | XM_006717631.2:c.-24C>T |
| ABCC2 transcript variant X2 | XM_006717631.1:c.-24= | XM_006717631.1:c.-24C>T |
| ABCC2 transcript variant X1 | XR_945604.4:n.182= | XR_945604.4:n.182C>T |
| ABCC2 transcript variant X1 | XR_945604.3:n.220= | XR_945604.3:n.220C>T |
| ABCC2 transcript variant X1 | XR_945604.2:n.199= | XR_945604.2:n.199C>T |
| ABCC2 transcript variant X1 | XR_945604.1:n.166= | XR_945604.1:n.166C>T |
| ABCC2 transcript variant X4 | XM_011539291.4:c.-24= | XM_011539291.4:c.-24C>T |
| ABCC2 transcript variant X4 | XM_011539291.3:c.-24= | XM_011539291.3:c.-24C>T |
| ABCC2 transcript variant X4 | XM_011539291.2:c.-24= | XM_011539291.2:c.-24C>T |
| ABCC2 transcript variant X4 | XM_011539291.1:c.-24= | XM_011539291.1:c.-24C>T |
| ABCC2 transcript variant X6 | XM_017015675.3:c.-24= | XM_017015675.3:c.-24C>T |
| ABCC2 transcript variant X6 | XM_017015675.2:c.-24= | XM_017015675.2:c.-24C>T |
| ABCC2 transcript variant X6 | XM_017015675.1:c.-24= | XM_017015675.1:c.-24C>T |
| ABCC2 transcript variant X3 | XM_047424598.1:c.-24= | XM_047424598.1:c.-24C>T |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
153 SubSNP,
30 Frequency,
3 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | TSC-CSHL | ss57377 | Oct 05, 2000 (86) |
| 2 | YUSUKE | ss3209256 | Sep 28, 2001 (100) |
| 3 | RIKENSNPRC | ss5602206 | Dec 12, 2002 (110) |
| 4 | SC_JCM | ss6192454 | Feb 20, 2003 (111) |
| 5 | ABI | ss38538845 | Mar 11, 2006 (126) |
| 6 | CSHL-HAPMAP | ss68393602 | Jan 12, 2007 (127) |
| 7 | PERLEGEN | ss69089180 | May 18, 2007 (127) |
| 8 | PHARMGKB_PMT | ss69365184 | May 18, 2007 (127) |
| 9 | ILLUMINA | ss75048315 | Dec 06, 2007 (129) |
| 10 | AFFY | ss76428821 | Dec 06, 2007 (129) |
| 11 | CGM_KYOTO | ss76874663 | Dec 06, 2007 (129) |
| 12 | PHARMGKB_CREATE | ss84173003 | Dec 15, 2007 (130) |
| 13 | CNG | ss86353099 | Mar 23, 2008 (129) |
| 14 | BCMHGSC_JDW | ss88330749 | Mar 23, 2008 (129) |
| 15 | HUMANGENOME_JCVI | ss97678897 | Feb 04, 2009 (130) |
| 16 | BGI | ss102905759 | Dec 01, 2009 (131) |
| 17 | 1000GENOMES | ss109695137 | Jan 24, 2009 (130) |
| 18 | 1000GENOMES | ss113721296 | Jan 25, 2009 (130) |
| 19 | KRIBB_YJKIM | ss119364311 | Dec 01, 2009 (131) |
| 20 | ENSEMBL | ss131832413 | Dec 01, 2009 (131) |
| 21 | ENSEMBL | ss132039587 | Dec 01, 2009 (131) |
| 22 | ILLUMINA | ss154410081 | Dec 01, 2009 (131) |
| 23 | GMI | ss155452516 | Dec 01, 2009 (131) |
| 24 | ILLUMINA | ss159585189 | Dec 01, 2009 (131) |
| 25 | ILLUMINA | ss160856272 | Dec 01, 2009 (131) |
| 26 | COMPLETE_GENOMICS | ss168710087 | Jul 04, 2010 (132) |
| 27 | COMPLETE_GENOMICS | ss170941693 | Jul 04, 2010 (132) |
| 28 | ILLUMINA | ss174275208 | Jul 04, 2010 (132) |
| 29 | 1000GENOMES | ss224901390 | Jul 14, 2010 (132) |
| 30 | 1000GENOMES | ss235305781 | Jul 15, 2010 (132) |
| 31 | 1000GENOMES | ss241986448 | Jul 15, 2010 (132) |
| 32 | BL | ss254564323 | May 09, 2011 (134) |
| 33 | GMI | ss280745325 | May 04, 2012 (137) |
| 34 | PJP | ss290916798 | May 09, 2011 (134) |
| 35 | ILLUMINA | ss410947277 | Sep 17, 2011 (135) |
| 36 | ILLUMINA | ss481493223 | May 04, 2012 (137) |
| 37 | ILLUMINA | ss481521787 | May 04, 2012 (137) |
| 38 | ILLUMINA | ss482498316 | Sep 08, 2015 (146) |
| 39 | ILLUMINA | ss485541849 | May 04, 2012 (137) |
| 40 | 1000GENOMES | ss491002916 | May 04, 2012 (137) |
| 41 | CLINSEQ_SNP | ss491630958 | May 04, 2012 (137) |
| 42 | ILLUMINA | ss535650923 | Sep 08, 2015 (146) |
| 43 | ILLUMINA | ss537445586 | Sep 08, 2015 (146) |
| 44 | SSMP | ss657232247 | Apr 25, 2013 (138) |
| 45 | NHLBI-ESP | ss712967947 | Apr 25, 2013 (138) |
| 46 | ILLUMINA | ss778595403 | Sep 08, 2015 (146) |
| 47 | ILLUMINA | ss783216436 | Sep 08, 2015 (146) |
| 48 | ILLUMINA | ss784171025 | Sep 08, 2015 (146) |
| 49 | ILLUMINA | ss832476626 | Sep 08, 2015 (146) |
| 50 | ILLUMINA | ss833096227 | Jul 13, 2019 (153) |
| 51 | ILLUMINA | ss834052640 | Sep 08, 2015 (146) |
| 52 | JMKIDD_LAB | ss974475846 | Aug 21, 2014 (142) |
| 53 | EVA-GONL | ss987841543 | Aug 21, 2014 (142) |
| 54 | PMT | ss1026802349 | Aug 21, 2014 (142) |
| 55 | JMKIDD_LAB | ss1067515486 | Aug 21, 2014 (142) |
| 56 | JMKIDD_LAB | ss1077240986 | Aug 21, 2014 (142) |
| 57 | 1000GENOMES | ss1338760008 | Aug 21, 2014 (142) |
| 58 | HAMMER_LAB | ss1397590397 | Sep 08, 2015 (146) |
| 59 | EVA_GENOME_DK | ss1575315288 | Apr 01, 2015 (144) |
| 60 | EVA_FINRISK | ss1584069854 | Apr 01, 2015 (144) |
| 61 | EVA_DECODE | ss1597515148 | Apr 01, 2015 (144) |
| 62 | EVA_UK10K_ALSPAC | ss1625270088 | Apr 01, 2015 (144) |
| 63 | EVA_UK10K_TWINSUK | ss1668264121 | Apr 01, 2015 (144) |
| 64 | EVA_EXAC | ss1690036653 | Apr 01, 2015 (144) |
| 65 | EVA_MGP | ss1711267506 | Apr 01, 2015 (144) |
| 66 | EVA_SVP | ss1713205555 | Apr 01, 2015 (144) |
| 67 | ILLUMINA | ss1751942542 | Sep 08, 2015 (146) |
| 68 | WEILL_CORNELL_DGM | ss1931206073 | Feb 12, 2016 (147) |
| 69 | ILLUMINA | ss1946291028 | Feb 12, 2016 (147) |
| 70 | ILLUMINA | ss1959288125 | Feb 12, 2016 (147) |
| 71 | GENOMED | ss1967207748 | Jul 19, 2016 (147) |
| 72 | JJLAB | ss2026332995 | Sep 14, 2016 (149) |
| 73 | USC_VALOUEV | ss2154610284 | Nov 08, 2017 (151) |
| 74 | HUMAN_LONGEVITY | ss2177428683 | Dec 20, 2016 (150) |
| 75 | SYSTEMSBIOZJU | ss2627634692 | Nov 08, 2017 (151) |
| 76 | ILLUMINA | ss2632753030 | Nov 08, 2017 (151) |
| 77 | ILLUMINA | ss2632753031 | Nov 08, 2017 (151) |
| 78 | ILLUMINA | ss2632753032 | Nov 08, 2017 (151) |
| 79 | ILLUMINA | ss2635018318 | Nov 08, 2017 (151) |
| 80 | GRF | ss2698863769 | Nov 08, 2017 (151) |
| 81 | ILLUMINA | ss2710718318 | Nov 08, 2017 (151) |
| 82 | GNOMAD | ss2738459005 | Nov 08, 2017 (151) |
| 83 | GNOMAD | ss2748452866 | Nov 08, 2017 (151) |
| 84 | GNOMAD | ss2892519797 | Nov 08, 2017 (151) |
| 85 | AFFY | ss2984921256 | Nov 08, 2017 (151) |
| 86 | AFFY | ss2985569119 | Nov 08, 2017 (151) |
| 87 | SWEGEN | ss3007023752 | Nov 08, 2017 (151) |
| 88 | ILLUMINA | ss3021268191 | Nov 08, 2017 (151) |
| 89 | BIOINF_KMB_FNS_UNIBA | ss3026956483 | Nov 08, 2017 (151) |
| 90 | CSIRBIOHTS | ss3029638070 | Nov 08, 2017 (151) |
| 91 | CSHL | ss3349276923 | Nov 08, 2017 (151) |
| 92 | ILLUMINA | ss3625585675 | Oct 12, 2018 (152) |
| 93 | ILLUMINA | ss3626517956 | Oct 12, 2018 (152) |
| 94 | ILLUMINA | ss3626517957 | Oct 12, 2018 (152) |
| 95 | ILLUMINA | ss3630775915 | Oct 12, 2018 (152) |
| 96 | ILLUMINA | ss3632961803 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3633659521 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3634420063 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3635351755 | Oct 12, 2018 (152) |
| 100 | ILLUMINA | ss3636104774 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3637102472 | Oct 12, 2018 (152) |
| 102 | ILLUMINA | ss3637869530 | Oct 12, 2018 (152) |
| 103 | ILLUMINA | ss3640127404 | Oct 12, 2018 (152) |
| 104 | ILLUMINA | ss3642871428 | Oct 12, 2018 (152) |
| 105 | ILLUMINA | ss3644543778 | Oct 12, 2018 (152) |
| 106 | OMUKHERJEE_ADBS | ss3646414400 | Oct 12, 2018 (152) |
| 107 | URBANLAB | ss3649449749 | Oct 12, 2018 (152) |
| 108 | ILLUMINA | ss3651627051 | Oct 12, 2018 (152) |
| 109 | ILLUMINA | ss3653692054 | Oct 12, 2018 (152) |
| 110 | EGCUT_WGS | ss3674435385 | Jul 13, 2019 (153) |
| 111 | EVA_DECODE | ss3690530871 | Jul 13, 2019 (153) |
| 112 | ILLUMINA | ss3725182486 | Jul 13, 2019 (153) |
| 113 | ACPOP | ss3737615588 | Jul 13, 2019 (153) |
| 114 | ILLUMINA | ss3744075202 | Jul 13, 2019 (153) |
| 115 | ILLUMINA | ss3744721017 | Jul 13, 2019 (153) |
| 116 | EVA | ss3748510307 | Jul 13, 2019 (153) |
| 117 | PAGE_CC | ss3771578208 | Jul 13, 2019 (153) |
| 118 | ILLUMINA | ss3772221357 | Jul 13, 2019 (153) |
| 119 | KHV_HUMAN_GENOMES | ss3813874689 | Jul 13, 2019 (153) |
| 120 | EVA | ss3824546344 | Apr 26, 2020 (154) |
| 121 | EVA | ss3825782019 | Apr 26, 2020 (154) |
| 122 | EVA | ss3832294413 | Apr 26, 2020 (154) |
| 123 | SGDP_PRJ | ss3874898076 | Apr 26, 2020 (154) |
| 124 | KRGDB | ss3923037421 | Apr 26, 2020 (154) |
| 125 | FSA-LAB | ss3983984701 | Apr 26, 2021 (155) |
| 126 | EVA | ss3984639672 | Apr 26, 2021 (155) |
| 127 | EVA | ss3985495483 | Apr 26, 2021 (155) |
| 128 | EVA | ss3986051479 | Apr 26, 2021 (155) |
| 129 | EVA | ss3986495599 | Apr 26, 2021 (155) |
| 130 | EVA | ss4017503579 | Apr 26, 2021 (155) |
| 131 | TOPMED | ss4863818268 | Apr 26, 2021 (155) |
| 132 | TOMMO_GENOMICS | ss5199126339 | Apr 26, 2021 (155) |
| 133 | 1000G_HIGH_COVERAGE | ss5285206102 | Oct 16, 2022 (156) |
| 134 | TRAN_CS_UWATERLOO | ss5314429446 | Oct 16, 2022 (156) |
| 135 | EVA | ss5315497214 | Oct 16, 2022 (156) |
| 136 | HUGCELL_USP | ss5480653228 | Oct 16, 2022 (156) |
| 137 | 1000G_HIGH_COVERAGE | ss5579743219 | Oct 16, 2022 (156) |
| 138 | EVA | ss5624012061 | Oct 16, 2022 (156) |
| 139 | SANFORD_IMAGENETICS | ss5624256689 | Oct 16, 2022 (156) |
| 140 | SANFORD_IMAGENETICS | ss5649951310 | Oct 16, 2022 (156) |
| 141 | TOMMO_GENOMICS | ss5745390819 | Oct 16, 2022 (156) |
| 142 | EVA | ss5799441005 | Oct 16, 2022 (156) |
| 143 | EVA | ss5799822718 | Oct 16, 2022 (156) |
| 144 | EVA | ss5800062133 | Oct 16, 2022 (156) |
| 145 | YY_MCH | ss5811821718 | Oct 16, 2022 (156) |
| 146 | EVA | ss5824854875 | Oct 16, 2022 (156) |
| 147 | EVA | ss5847378767 | Oct 16, 2022 (156) |
| 148 | EVA | ss5847607183 | Oct 16, 2022 (156) |
| 149 | EVA | ss5848305926 | Oct 16, 2022 (156) |
| 150 | EVA | ss5849710882 | Oct 16, 2022 (156) |
| 151 | EVA | ss5880222575 | Oct 16, 2022 (156) |
| 152 | EVA | ss5941241928 | Oct 16, 2022 (156) |
| 153 | EVA | ss5979336591 | Oct 16, 2022 (156) |
| 154 | 1000Genomes | NC_000010.10 - 101542578 | Oct 12, 2018 (152) |
| 155 | 1000Genomes_30x | NC_000010.11 - 99782821 | Oct 16, 2022 (156) |
| 156 | The Avon Longitudinal Study of Parents and Children | NC_000010.10 - 101542578 | Oct 12, 2018 (152) |
| 157 | Chileans | NC_000010.10 - 101542578 | Apr 26, 2020 (154) |
| 158 | Genome-wide autozygosity in Daghestan | NC_000010.9 - 101532568 | Apr 26, 2020 (154) |
| 159 | Genetic variation in the Estonian population | NC_000010.10 - 101542578 | Oct 12, 2018 (152) |
| 160 | ExAC | NC_000010.10 - 101542578 | Oct 12, 2018 (152) |
| 161 | FINRISK | NC_000010.10 - 101542578 | Apr 26, 2020 (154) |
| 162 | The Danish reference pan genome | NC_000010.10 - 101542578 | Apr 26, 2020 (154) |
| 163 | gnomAD - Genomes | NC_000010.11 - 99782821 | Apr 26, 2021 (155) |
| 164 | gnomAD - Exomes | NC_000010.10 - 101542578 | Jul 13, 2019 (153) |
| 165 | GO Exome Sequencing Project | NC_000010.10 - 101542578 | Oct 12, 2018 (152) |
| 166 | Genome of the Netherlands Release 5 | NC_000010.10 - 101542578 | Apr 26, 2020 (154) |
| 167 | HapMap | NC_000010.11 - 99782821 | Apr 26, 2020 (154) |
| 168 | KOREAN population from KRGDB | NC_000010.10 - 101542578 | Apr 26, 2020 (154) |
| 169 | Medical Genome Project healthy controls from Spanish population | NC_000010.10 - 101542578 | Apr 26, 2020 (154) |
| 170 | Northern Sweden | NC_000010.10 - 101542578 | Jul 13, 2019 (153) |
| 171 | The PAGE Study | NC_000010.11 - 99782821 | Jul 13, 2019 (153) |
| 172 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000010.10 - 101542578 | Apr 26, 2021 (155) |
| 173 | CNV burdens in cranial meningiomas | NC_000010.10 - 101542578 | Apr 26, 2021 (155) |
| 174 | PharmGKB Aggregated | NC_000010.11 - 99782821 | Apr 26, 2020 (154) |
| 175 | Qatari | NC_000010.10 - 101542578 | Apr 26, 2020 (154) |
| 176 | SGDP_PRJ | NC_000010.10 - 101542578 | Apr 26, 2020 (154) |
| 177 | Siberian | NC_000010.10 - 101542578 | Apr 26, 2020 (154) |
| 178 | 8.3KJPN | NC_000010.10 - 101542578 | Apr 26, 2021 (155) |
| 179 | 14KJPN | NC_000010.11 - 99782821 | Oct 16, 2022 (156) |
| 180 | TopMed | NC_000010.11 - 99782821 | Apr 26, 2021 (155) |
| 181 | UK 10K study - Twins | NC_000010.10 - 101542578 | Oct 12, 2018 (152) |
| 182 | A Vietnamese Genetic Variation Database | NC_000010.10 - 101542578 | Jul 13, 2019 (153) |
| 183 | ALFA | NC_000010.11 - 99782821 | Apr 26, 2021 (155) |
| 184 | ClinVar | RCV000404794.3 | Oct 16, 2022 (156) |
| 185 | ClinVar | RCV000727831.3 | Oct 16, 2022 (156) |
| 186 | ClinVar | RCV001683197.1 | Oct 16, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs17216163 | Mar 11, 2006 (126) |
| rs58371376 | May 24, 2008 (130) |
| rs386485129 | Aug 21, 2014 (142) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 61804, ss88330749, ss109695137, ss113721296, ss168710087, ss170941693, ss254564323, ss280745325, ss290916798, ss481493223, ss491630958, ss1397590397, ss1597515148, ss1713205555, ss2635018318, ss3642871428 | NC_000010.9:101532567:C:T | NC_000010.11:99782820:C:T | (self) |
| 51196233, 28427198, 59257, 20173633, 267910, 66315, 2296834, 7659905, 1004020, 12675403, 30214815, 383266, 10900453, 721410, 189139, 13248003, 26915056, 7126638, 57095646, 28427198, 6311673, ss224901390, ss235305781, ss241986448, ss481521787, ss482498316, ss485541849, ss491002916, ss535650923, ss537445586, ss657232247, ss712967947, ss778595403, ss783216436, ss784171025, ss832476626, ss833096227, ss834052640, ss974475846, ss987841543, ss1026802349, ss1067515486, ss1077240986, ss1338760008, ss1575315288, ss1584069854, ss1625270088, ss1668264121, ss1690036653, ss1711267506, ss1751942542, ss1931206073, ss1946291028, ss1959288125, ss1967207748, ss2026332995, ss2154610284, ss2627634692, ss2632753030, ss2632753031, ss2632753032, ss2698863769, ss2710718318, ss2738459005, ss2748452866, ss2892519797, ss2984921256, ss2985569119, ss3007023752, ss3021268191, ss3029638070, ss3349276923, ss3625585675, ss3626517956, ss3626517957, ss3630775915, ss3632961803, ss3633659521, ss3634420063, ss3635351755, ss3636104774, ss3637102472, ss3637869530, ss3640127404, ss3644543778, ss3646414400, ss3651627051, ss3653692054, ss3674435385, ss3737615588, ss3744075202, ss3744721017, ss3748510307, ss3772221357, ss3824546344, ss3825782019, ss3832294413, ss3874898076, ss3923037421, ss3983984701, ss3984639672, ss3985495483, ss3986051479, ss3986495599, ss4017503579, ss5199126339, ss5315497214, ss5624012061, ss5624256689, ss5649951310, ss5799441005, ss5799822718, ss5800062133, ss5824854875, ss5847378767, ss5847607183, ss5848305926, ss5941241928, ss5979336591 | NC_000010.10:101542577:C:T | NC_000010.11:99782820:C:T | (self) |
| RCV000404794.3, RCV000727831.3, RCV001683197.1, 67269154, 361735376, 475440, 799677, 1173, 79227923, 79363923, 13050017336, ss2177428683, ss3026956483, ss3649449749, ss3690530871, ss3725182486, ss3771578208, ss3813874689, ss4863818268, ss5285206102, ss5314429446, ss5480653228, ss5579743219, ss5745390819, ss5811821718, ss5849710882, ss5880222575 | NC_000010.11:99782820:C:T | NC_000010.11:99782820:C:T | (self) |
| ss57377, ss3209256, ss5602206, ss6192454, ss38538845, ss68393602, ss69089180, ss69365184, ss75048315, ss76428821, ss76874663, ss84173003, ss86353099, ss97678897, ss102905759, ss119364311, ss131832413, ss132039587, ss154410081, ss155452516, ss159585189, ss160856272, ss174275208, ss410947277 | NT_030059.13:52347041:C:T | NC_000010.11:99782820:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
111
citations for rs717620
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 17997497 | Association of the multidrug-resistance-associated protein gene (ABCC2) variants with intrahepatic cholestasis of pregnancy. | Sookoian S et al. | 2008 | Journal of hepatology |
| 18926681 | Polymorphisms of MRP2 (ABCC2) are associated with susceptibility to nonalcoholic fatty liver disease. | Sookoian S et al. | 2009 | The Journal of nutritional biochemistry |
| 19415824 | Non-response to antiepileptic pharmacotherapy is associated with the ABCC2 -24C>T polymorphism in young and adult patients with epilepsy. | Ufer M et al. | 2009 | Pharmacogenetics and genomics |
| 19442035 | Pharmacogenomics of platinum-based chemotherapy in NSCLC. | Hildebrandt MA et al. | 2009 | Expert opinion on drug metabolism & toxicology |
| 19568750 | MRP2 and GSTP1 polymorphisms and chemotherapy response in advanced non-small cell lung cancer. | Sun N et al. | 2010 | Cancer chemotherapy and pharmacology |
| 19890061 | The 5'-untranslated region of multidrug resistance associated protein 2 (MRP2; ABCC2) regulates downstream open reading frame expression through translational regulation. | Zhang Y et al. | 2010 | Molecular pharmacology |
| 19940846 | The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology. | Kroetz DL et al. | 2010 | Clinical pharmacology and therapeutics |
| 20061166 | Genetic polymorphisms influence mycophenolate mofetil-related adverse events in pediatric heart transplant patients. | Ohmann EL et al. | 2010 | The Journal of heart and lung transplantation |
| 20139798 | ADME pharmacogenetics: investigation of the pharmacokinetics of the antiretroviral agent lopinavir coformulated with ritonavir. | Lubomirov R et al. | 2010 | Pharmacogenetics and genomics |
| 20602618 | Irinotecan pharmacogenomics. | Marsh S et al. | 2010 | Pharmacogenomics |
| 21072184 | Flavopiridol pharmacogenetics: clinical and functional evidence for the role of SLCO1B1/OATP1B1 in flavopiridol disposition. | Ni W et al. | 2010 | PloS one |
| 21122163 | The pharmacogenetics of imanitib. | Dulucq S et al. | 2010 | Genome medicine |
| 21288825 | Association of pharmacogenetic markers with premature discontinuation of first-line anti-HIV therapy: an observational cohort study. | Lubomirov R et al. | 2011 | The Journal of infectious diseases |
| 21434840 | The influence of pharmacogenetics and cofactors on clinical outcomes in kidney transplantation. | Picard N et al. | 2011 | Expert opinion on drug metabolism & toxicology |
| 21451505 | Effect of ABCC2 (MRP2) transport function on erythromycin metabolism. | Franke RM et al. | 2011 | Clinical pharmacology and therapeutics |
| 21541183 | Urinary elimination of coproporphyrins is dependent on ABCC2 polymorphisms and represents a potential biomarker of MRP2 activity in humans. | Benz-de Bretagne I et al. | 2011 | Journal of biomedicine & biotechnology |
| 21628669 | Genetic variants of ABCC10, a novel tenofovir transporter, are associated with kidney tubular dysfunction. | Pushpakom SP et al. | 2011 | The Journal of infectious diseases |
| 21712189 | Analysis of pharmacogenetic traits in two distinct South African populations. | Ikediobi O et al. | 2011 | Human genomics |
| 21738081 | PharmGKB summary: carbamazepine pathway. | Thorn CF et al. | 2011 | Pharmacogenetics and genomics |
| 22044695 | Genetic variants associated with the risk of chronic obstructive pulmonary disease with and without lung cancer. | de Andrade M et al. | 2012 | Cancer prevention research (Philadelphia, Pa.) |
| 22235271 | Determinants of sustained viral suppression in HIV-infected patients with self-reported poor adherence to antiretroviral therapy. | Glass TR et al. | 2012 | PloS one |
| 22318656 | Interindividual variability in hepatic expression of the multidrug resistance-associated protein 2 (MRP2/ABCC2): quantification by liquid chromatography/tandem mass spectrometry. | Deo AK et al. | 2012 | Drug metabolism and disposition |
| 22454423 | Genetic variations and patient-reported quality of life among patients with lung cancer. | Sloan JA et al. | 2012 | Journal of clinical oncology |
| 22473764 | A comprehensive study of polymorphisms in ABCB1, ABCC2 and ABCG2 and lung cancer chemotherapy response and prognosis. | Campa D et al. | 2012 | International journal of cancer |
| 22630058 | ABCC2 polymorphisms and haplotype are associated with drug resistance in Chinese epileptic patients. | Qu J et al. | 2012 | CNS neuroscience & therapeutics |
| 22868256 | A prospective validation pharmacogenomic study in the adjuvant setting of colorectal cancer patients treated with the 5-fluorouracil/leucovorin/oxaliplatin (FOLFOX4) regimen. | Cecchin E et al. | 2013 | The pharmacogenomics journal |
| 23033116 | Effect of adherence as measured by MEMS, ritonavir boosting, and CYP3A5 genotype on atazanavir pharmacokinetics in treatment-naive HIV-infected patients. | Savic RM et al. | 2012 | Clinical pharmacology and therapeutics |
| 23052037 | Polymorphisms in genes encoding potential mercury transporters and urine mercury concentrations in populations exposed to mercury vapor from gold mining. | Engström K et al. | 2013 | Environmental health perspectives |
| 23056078 | Gene polymorphisms of ABC transporters are associated with clinical outcomes in children with acute lymphoblastic leukemia. | Zhai X et al. | 2012 | Archives of medical science |
| 23069858 | Impact of ABCC2 polymorphisms on high-dose methotrexate pharmacokinetics in patients with lymphoid malignancy. | Simon N et al. | 2013 | The pharmacogenomics journal |
| 23189085 | Impact of genetic polymorphisms on chemotherapy toxicity in childhood acute lymphoblastic leukemia. | Gervasini G et al. | 2012 | Frontiers in genetics |
| 23252947 | Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy. | Puranik YG et al. | 2013 | Pharmacogenomics |
| 23443032 | Fetal polymorphisms at the ABCB1-transporter gene locus are associated with susceptibility to non-syndromic oral cleft malformations. | Omoumi A et al. | 2013 | European journal of human genetics |
| 23506516 | A systematic review and meta-analysis of the role of ABCC2 variants on drug response in patients with epilepsy. | Grover S et al. | 2013 | Epilepsia |
| 23633119 | Multidrug resistance-associated protein 2 (MRP2/ABCC2) haplotypes significantly affect the pharmacokinetics of tacrolimus in kidney transplant recipients. | Ogasawara K et al. | 2013 | Clinical pharmacokinetics |
| 23717663 | Linkage disequilibrium between polymorphisms of ABCB1 and ABCC2 to predict the treatment outcome of Malaysians with complex partial seizures on treatment with carbamazepine mono-therapy at the Kuala Lumpur Hospital. | Subenthiran S et al. | 2013 | PloS one |
| 23766564 | Pharmacogenetics of chronic pain and its treatment. | Světlík S et al. | 2013 | Mediators of inflammation |
| 23940561 | Polymorphism of ORM1 is associated with the pharmacokinetics of telmisartan. | Chen WQ et al. | 2013 | PloS one |
| 24019753 | Association of CYP3A4/5, ABCB1 and ABCC2 polymorphisms and clinical outcomes of Thai breast cancer patients treated with tamoxifen. | Sensorn I et al. | 2013 | Pharmacogenomics and personalized medicine |
| 24587300 | Serum bilirubin concentration in healthy adult North-Europeans is strictly controlled by the UGT1A1 TA-repeat variants. | Kringen MK et al. | 2014 | PloS one |
| 24732756 | Selected ABCB1, ABCB4 and ABCC2 polymorphisms do not enhance the risk of drug-induced hepatotoxicity in a Spanish cohort. | Ulzurrun E et al. | 2014 | PloS one |
| 24889212 | Systematic review: interactions between aspirin, and other nonsteroidal anti-inflammatory drugs, and polymorphisms in relation to colorectal cancer. | Andersen V et al. | 2014 | Alimentary pharmacology & therapeutics |
| 24909419 | A 30-years review on pharmacokinetics of antibiotics: is the right time for pharmacogenetics? | Baietto L et al. | 2014 | Current drug metabolism |
| 24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY et al. | 2014 | Biomedical reports |
| 24991206 | Polymorphisms in folate pathway and pemetrexed treatment outcome in patients with malignant pleural mesothelioma. | Goricar K et al. | 2014 | Radiology and oncology |
| 25007187 | Genetic polymorphisms in candidate genes predict increased toxicity with methotrexate therapy in Lebanese children with acute lymphoblastic leukemia. | Zgheib NK et al. | 2014 | Pharmacogenetics and genomics |
| 25110414 | Pharmacogenetics research on chemotherapy resistance in colorectal cancer over the last 20 years. | Panczyk M et al. | 2014 | World journal of gastroenterology |
| 25132748 | FOLFOX/FOLFIRI pharmacogenetics: the call for a personalized approach in colorectal cancer therapy. | Mohelnikova-Duchonova B et al. | 2014 | World journal of gastroenterology |
| 25426075 | The role of drug transporters in the kidney: lessons from tenofovir. | Moss DM et al. | 2014 | Frontiers in pharmacology |
| 25491747 | Interactions between meat intake and genetic variation in relation to colorectal cancer. | Andersen V et al. | 2015 | Genes & nutrition |
| 25554586 | Report of new haplotype for ABCC2 gene: rs17222723 and rs8187718 in cis. | Pratt VM et al. | 2015 | The Journal of molecular diagnostics |
| 25745368 | Prediction of methotrexate intolerance in juvenile idiopathic arthritis: a prospective, observational cohort study. | van Dijkhuizen EH et al. | 2015 | Pediatric rheumatology online journal |
| 26013475 | Long-term renal effects of tenofovir-disoproxil-fumarate in vertically HIV-infected children, adolescents, and young adults: a 132-month follow-up study. | Giacomet V et al. | 2015 | Clinical drug investigation |
| 26287941 | Polymorphisms associated with renal adverse effects of antiretroviral therapy in a Southern Brazilian HIV cohort. | da Rocha IM et al. | 2015 | Pharmacogenetics and genomics |
| 26410689 | Development of Human Membrane Transporters: Drug Disposition and Pharmacogenetics. | Mooij MG et al. | 2016 | Clinical pharmacokinetics |
| 26785747 | Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan. | Iskakova AN et al. | 2016 | BMC genetics |
| 26801900 | Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations. | Cocca M et al. | 2016 | Journal of translational medicine |
| 26807589 | A Single-Nucleotide Polymorphism in ABCC4 Is Associated with Tenofovir-Related Beta2-Microglobulinuria in Thai Patients with HIV-1 Infection. | Likanonsakul S et al. | 2016 | PloS one |
| 26858644 | Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling. | Chua EW et al. | 2016 | Frontiers in pharmacology |
| 27110117 | Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder. | Medhasi S et al. | 2016 | Neuropsychiatric disease and treatment |
| 27262785 | Polymorphisms in ATP-binding cassette transporters associated with maternal methylmercury disposition and infant neurodevelopment in mother-infant pairs in the Seychelles Child Development Study. | Engström K et al. | 2016 | Environment international |
| 27437086 | Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences. | Eom SY et al. | 2016 | Toxicological research |
| 27487151 | ABCC2-24C > T polymorphism is associated with the response to platinum/5-Fu-based neoadjuvant chemotherapy and better clinical outcomes in advanced gastric cancer patients. | Li Z et al. | 2016 | Oncotarget |
| 27590272 | Associations of genetic polymorphisms of the transporters organic cation transporter 2 (OCT2), multidrug and toxin extrusion 1 (MATE1), and ATP-binding cassette subfamily C member 2 (ABCC2) with platinum-based chemotherapy response and toxicity in non-small cell lung cancer patients. | Qian CY et al. | 2016 | Chinese journal of cancer |
| 27780519 | International Congress of Drug Therapy in HIV Infection 23-26 October 2016, Glasgow, UK. | 2016 | Journal of the International AIDS Society | |
| 27825374 | Low heritability in pharmacokinetics of talinolol: a pharmacogenetic twin study on the heritability of the pharmacokinetics of talinolol, a putative probe drug of MDR1 and other membrane transporters. | Matthaei J et al. | 2016 | Genome medicine |
| 27886333 | Association between the polymorphisms in the ATP-binding cassette genes ABCB1 and ABCC2 and the risk of drug-resistant epilepsy in a Chinese Han population. | Xue T et al. | 2016 | Genetics and molecular research |
| 28353455 | Pharmacogenomic influence on sepsis outcome in critically ill patients. | Allegra S et al. | 2017 | Le infezioni in medicina |
| 28442702 | Effect of GSTP1 and ABCC2 Polymorphisms on Treatment Response in Patients with Advanced Non-Small Cell Lung Cancer Undergoing Platinum-Based Chemotherapy: A Study in a Chinese Uygur Population. | Han ZG et al. | 2017 | Medical science monitor |
| 28583112 | Clinical and genetic factors associated with kidney tubular dysfunction in a real-life single centre cohort of HIV-positive patients. | Salvaggio SE et al. | 2017 | BMC infectious diseases |
| 28640195 | Pharmacogenomic Variants May Influence the Urinary Excretion of Novel Kidney Injury Biomarkers in Patients Receiving Cisplatin. | Chang C et al. | 2017 | International journal of molecular sciences |
| 29178257 | Gender-Specific Association Between ABCC2 -24C>T SNP and Reduction in Triglycerides in Chilean Patients Treated With Atorvastatin. | Prado Y et al. | 2018 | Basic & clinical pharmacology & toxicology |
| 29193749 | Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years. | Borobia AM et al. | 2018 | Clinical and translational science |
| 29499902 | Effect of UGT, SLCO, ABCB and ABCC polymorphisms on irinotecan toxicity. | García Gil S et al. | 2018 | Medicina clinica |
| 29681089 | Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida. | Padula AM et al. | 2018 | American journal of medical genetics. Part A |
| 29914286 | Pharmacogenetic of voriconazole antifungal agent in pediatric patients. | Allegra S et al. | 2018 | Pharmacogenomics |
| 30024814 | Association of ABCC2 polymorphism and gender with high-density lipoprotein cholesterol response to simvastatin. | Liu N et al. | 2018 | Pharmacogenomics |
| 30068618 | Cohort Profile: the Predictors of Breast Cancer Recurrence (ProBe CaRE) Premenopausal Breast Cancer Cohort Study in Denmark. | Collin LJ et al. | 2018 | BMJ open |
| 30071797 | Polymorphisms of tenofovir disoproxil fumarate transporters and risk of kidney tubular dysfunction in HIV-positive patients: genetics of tenofovir transporters. | Danjuma MI et al. | 2018 | International journal of STD & AIDS |
| 30119132 | Genetic polymorphisms in candidate genes are not associated with increased vincristine-related peripheral neuropathy in Arab children treated for acute childhood leukemia: a single institution study. | Zgheib NK et al. | 2018 | Pharmacogenetics and genomics |
| 30215770 | Pharmacokinetics and pharmacogenomics of mycophenolic acid and its clinical correlations in maintenance immunosuppression for lupus nephritis. | Yap DYH et al. | 2020 | Nephrology, dialysis, transplantation |
| 30334909 | Pharmacogenetic variants and response to neoadjuvant single-agent doxorubicin or docetaxel: a study in locally advanced breast cancer patients participating in the NCT00123929 phase 2 randomized trial. | Ruiz-Pinto S et al. | 2018 | Pharmacogenetics and genomics |
| 30345879 | Impact of UGT2B7 and ABCC2 genetic polymorphisms on mycophenolic acid metabolism in Chinese renal transplant recipients. | Li LQ et al. | 2018 | Pharmacogenomics |
| 30360603 | Effects of ABCC2 and SLCO1B1 Polymorphisms on Treatment Responses in Thai Metastatic Colorectal Cancer Patients Treated with Irinotecan-Based Chemotherapy. | Treenert A et al. | 2018 | Asian Pacific journal of cancer prevention |
| 30393497 | The significance of enzyme and transporter polymorphisms for imatinib plasma levels and achieving an optimal response in chronic myeloid leukemia patients. | Belohlavkova P et al. | 2018 | Archives of medical science |
| 30629142 | Genetic variability of the ABCC2 gene and clinical outcomes in pancreatic cancer patients. | Gentiluomo M et al. | 2019 | Carcinogenesis |
| 30713338 | Is a pharmacogenomic panel useful to estimate the risk of oxaliplatin-related neurotoxicity in colorectal cancer patients? | Nichetti F et al. | 2019 | The pharmacogenomics journal |
| 30796464 | ABCB1 c.3435C>T polymorphism is associated with platinum toxicity: a preliminary study. | De Troia B et al. | 2019 | Cancer chemotherapy and pharmacology |
| 31086207 | Implications of genetic variation of common Drug Metabolizing Enzymes and ABC Transporters among the Pakistani Population. | Afsar NA et al. | 2019 | Scientific reports |
| 31195293 | Polymorphisms in potential mercury transporter ABCC2 and neurotoxic symptoms in populations exposed to mercury vapor from goldmining. | Kolbinger V et al. | 2019 | Environmental research |
| 31354331 | Effects of MTHFR and ABCC2 gene polymorphisms on antiepileptic drug responsiveness in Jordanian epileptic patients. | Al-Eitan LN et al. | 2019 | Pharmacogenomics and personalized medicine |
| 31391850 | Role of Four ABC Transporter Genes in Pharmacogenetic Susceptibility to Breast Cancer in Jordanian Patients. | Al-Eitan LN et al. | 2019 | Journal of oncology |
| 31870219 | Association of ABCC2 with levels and toxicity of methotrexate in Malaysian Childhood Acute Lymphoblastic Leukemia (ALL). | Razali RH et al. | 2020 | Pediatric hematology and oncology |
| 32639515 | Bayesian Pathway Analysis for Complex Interactions. | Baurley JW et al. | 2020 | American journal of epidemiology |
| 32993083 | Clinical and Laboratory Associations with Methotrexate Metabolism Gene Polymorphisms in Rheumatoid Arthritis. | D'Cruz LG et al. | 2020 | Journal of personalized medicine |
| 33323685 | The association of transporter ABCC2 (MRP2) genetic variation and drug-induced hyperbilirubinemia. | Huang YS et al. | 2021 | Journal of the Chinese Medical Association |
| 33519226 | Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon. | Fernandes MR et al. | 2021 | Pharmacogenomics and personalized medicine |
| 33569925 | Gene-environment interactions between air pollution and biotransformation enzymes and risk of birth defects. | Padula AM et al. | 2021 | Birth defects research |
| 33714108 | Polymorphisms in GNMT and DNMT3b are associated with methotrexate treatment outcome in plaque psoriasis. | Grželj J et al. | 2021 | Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie |
| 33794950 | Single nucleotide polymorphisms associated with methotrexate-induced nausea in juvenile idiopathic arthritis. | Kyvsgaard N et al. | 2021 | Pediatric rheumatology online journal |
| 33974505 | Association of polymorphism of CYP3A4, ABCB1, ABCC2, ABCG2, NFKB1, POR, and PXR with the concentration of cyclosporin A in allogeneic haematopoietic stem cell transplantation recipients. | Wang L et al. | 2021 | Xenobiotica; the fate of foreign compounds in biological systems |
| 34087576 | A systematic review and meta-analysis of the association of ABCC2/ABCG2 polymorphisms with antiepileptic drug responses in epileptic patients. | Zan X et al. | 2021 | Epilepsy research |
| 34169529 | Association of ABCC2 Haplotypes to Mycophenolic Acid Pharmacokinetics in Stable Kidney Transplant Recipients. | Brazeau D et al. | 2021 | Journal of clinical pharmacology |
| 34309735 | Predictive value of ERCC2, ABCC2 and MMP2 of response and long-term survival in locally advanced head and neck cancer patients treated with chemoradiotherapy. | Duran G et al. | 2021 | Cancer chemotherapy and pharmacology |
| 34385834 | Individualized Drugs' Selection by Evaluation of Drug Properties, Pharmacogenomics and Clinical Parameters: Performance of a Bioinformatic Tool Compared to a Clinically Established Counselling Process. | Borro M et al. | 2021 | Pharmacogenomics and personalized medicine |
| 34614057 | ABCG2 polymorphism, age and leukocyte count may contribute to oral mucositis in oncopediatric patients. | Viana Filho JMC et al. | 2021 | Brazilian dental journal |
| 34684087 | Polymorphism in Gene for ABCC2 Transporter Predicts Methotrexate Drug Survival in Patients with Psoriasis. | Grželj J et al. | 2021 | Medicina (Kaunas, Lithuania) |
| 34703277 | Pharmacokinetics of Tenofovir Alafenamide Fumarate and Tenofovir in the Chinese People: Effects of Non-Genetic Factors and Genetic Variations. | Li X et al. | 2021 | Pharmacogenomics and personalized medicine |
| 35158880 | Pharmacogenomics of Vincristine-Induced Peripheral Neuropathy in Children with Cancer: A Systematic Review and Meta-Analysis. | Uittenboogaard A et al. | 2022 | Cancers |
| 35437350 | Associations Between Genetic Polymorphisms Within Transporter Genes and Clinical Response to Methotrexate in Chinese Rheumatoid Arthritis Patients: A Pilot Study. | Cen H et al. | 2022 | Pharmacogenomics and personalized medicine |
| 35567285 | Pharmacokinetics of free and total mycophenolic acid in paediatric and adult renal transplant recipients: Exploratory analysis of the effects of clinical factors and gene variants. | Liu Y et al. | 2022 | Basic & clinical pharmacology & toxicology |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.